SNP Detail For rs10428132
1.Mapping Information
Human SNP ID rs10428132
Human chromosome chr3
Human SNP position 38736063
Pig chromosome chr13
Pig SNP position 25740919
2.Annotation Information
PubMed ID23872634
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23872634
StudyCommon variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Disease/TraitBrugada syndrome
Initial sample312 European ancestry cases, 1,115 European ancestry controls
Replication sample594 European ancestry cases, 806 European ancestry controls, 208 Japanese ancestry cases, 1,1016 Japanese controls
Region3p22.2
Chromosome idchr3
Chromosome position38736063
Reported geneSCN10A
Mapped geneSCN10A
Upstream gene id
Downstream gene id
SNP gene ids6336
Upstream gene distance
Downstream gene distance
SNP risk allelers10428132-T
SNPsrs10428132
Merged0
SNP id current10428132
Contextintron_variant
Intergenic0
Allele frequency0.41
P value1E-68
Pvalue mlog68
P value text
Or beta2.55
%95 Ci[2.30-2.84]
PlatformAffymetrix [360149]
CNVN
Mapped traitBrugada syndrome
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_130
Study accessionGCST002098